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1.
Artigo em Inglês | MEDLINE | ID: mdl-36418179

RESUMO

BACKGROUND AND OBJECTIVES: Observational studies suggest low levels of 25-hydroxyvitamin D (25[OH]D) may be associated with increased disease activity in people with multiple sclerosis (PwMS). Large-scale genome-wide association studies (GWAS) suggest 25(OH)D levels are partly genetically determined. The resultant polygenic scores (PGSs) could serve as a proxy for 25(OH)D levels, minimizing potential confounding and reverse causation in analyses with outcomes. Herein, we assess the association of genetically determined 25(OH)D and disease outcomes in MS. METHODS: We generated 25(OH)D PGS for 1,924 PwMS with available genotyping data pooled from 3 studies: the CombiRx trial (n = 575), Johns Hopkins MS Center (n = 1,152), and Immune-Mediated Inflammatory Diseases study (n = 197). 25(OH)D-PGS were derived using summary statistics (p < 5 × 10-8) from a large GWAS including 485,762 individuals with circulating 25(OH)D levels measured. We included clinical and imaging outcomes: Expanded disability status scale (EDSS), timed 25-foot walk (T25FW), nine-hole peg test (9HPT), radiologic activity, and optical coherence tomography-derived ganglion cell inner plexiform layer (GCIPL) thickness. A subset (n = 935) had measured circulating 25(OH)D levels. We fitted multivariable models based on the outcome of interest and pooled results across studies using random effects meta-analysis. Sensitivity analyses included a modified p value threshold for inclusion in the PGS (5 × 10-5) and applying Mendelian randomization (MR) rather than using PGS. RESULTS: Initial analyses demonstrated a positive association between generated 25(OH)D-PGS and circulating 25(OH)D levels (per 1SD increase in 25[OH]D PGS: 3.08%, 95% CI: 1.77%, 4.42%; p = 4.33e-06; R2 = 2.24%). In analyses with outcomes, we did not observe an association between 25(OH)D-PGS and relapse rate (per 1SD increase in 25[OH]D-PGS: 0.98; 95% CI: 0.87-1.10), EDSS worsening (per 1SD: 1.05; 95% CI: 0.87-1.28), change in T25FW (per 1SD: 0.07%; 95% CI: -0.34 to 0.49), or change in 9HPT (per 1SD: 0.09%; 95% CI: -0.15 to 0.33). 25(OH)D-PGS was not associated with new lesion accrual, lesion volume or other imaging-based outcomes (whole brain, gray, white matter volume loss or GCIPL thinning). The results were similarly null in analyses using other p value thresholds or those applying MR. DISCUSSION: Genetically determined lower 25(OH)D levels were not associated with worse disease outcomes in PwMS and raises questions about the plausibility of a treatment effect of vitamin D in established MS.


Assuntos
Esclerose Múltipla , Humanos , Esclerose Múltipla/genética , Estudo de Associação Genômica Ampla , Vitamina D , Encéfalo , Fatores de Risco
2.
J Ethnopharmacol ; 300: 115689, 2023 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-36096349

RESUMO

ETHNOPHARMACOLOGICAL RELEVANCE: Xiao Chai Hu Tang (XCHT) derived from the classic medical book Shang Han Lun (Treatise on Febrile Diseases) in the Eastern Han Dynasty, which has been widely used in China and other Asian countries for the treatment of inflammation and fibrosis of chronic pancreatitis (CP), but the therapeutic mechanism of XCHT in pancreatic fibrosis remains unclear. AIM OF THE STUDY: This study aimed to evaluate the intervention effects and explore pharmacological mechanism of XCHT on inflammation and fibrosis in cerulein-induced CP model. MATERIALS AND METHODS: Fifty male C57BL/6 mice were randomly divided into five main groups, 10 animals in each: Control, CP model (50 µg/kg cerulein), high dose XCHT-treated CP group (60 g/kg XCHT), medium dose XCHT-treated CP group (30 g/kg XCHT) and low dose XCHT-treated CP group (15 g/kg XCHT). Different doses of XCHT were given to mice by gavage twice a day for 2 weeks after the CP model induction. Pancreatic tissues were harvested and the pancreatic inflammation and fibrosis were evaluated by histological score, Sirius red staining, and alpha-smooth muscle actin (α-SMA) immunohistochemical staining. ELISA, IHC and RT-qPCR were performed to detect the expression of Vitamin D3 (VD3) and Vitamin D receptor (VDR) in serum and pancreatic tissues, respectively. The expressions of NLRP3 inflammasome related genes and molecules were assayed by WB, IHC and RT-qPCR. RESULTS: The pathohistological results demonstrated that XCHT markedly inhibited the fibrosis and chronic inflammation of cerulein-induced CP, indicated by reduction of collagen I, collagen III, α-SMA, and NLRP3 expressions. XCHT significantly increased VD3 and VDR expression while reduced the pancreatic NLRP3 expression. Correspondingly, XCHT decreased the levels of NLRP3 downstream targets IL-1ß, TNF-α and IL-6. CONCLUSIONS: These results revealed that XCHT suppressed the pancreatic fibrosis and chronic inflammation in cerulein-induced CP model by enhancing the VD3/VDR expression and inhibiting the secretion of NLRP3-assoicated inflammatory factors.


Assuntos
Ceruletídeo , Pancreatite Crônica , Actinas/metabolismo , Animais , Ceruletídeo/efeitos adversos , Colágeno/metabolismo , Modelos Animais de Doenças , Fibrose , Inflamassomos/metabolismo , Inflamação , Interleucina-6 , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Proteína 3 que Contém Domínio de Pirina da Família NLR/metabolismo , Pancreatite Crônica/induzido quimicamente , Pancreatite Crônica/tratamento farmacológico , Pancreatite Crônica/metabolismo , Receptores de Calcitriol/uso terapêutico , Transdução de Sinais , Fator de Necrose Tumoral alfa , Vitamina D/efeitos adversos
3.
Methods Mol Biol ; 2571: 143-148, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36152158

RESUMO

Cholesterol is an essential lipid molecule for several biological functions including the proper functioning of cell membranes, lipoproteins, and lipid rafts, as well as the synthesis of bile acids, vitamin D, and steroid hormones. Cholesterol can be extracted from liver tissue by multiple methods of lipid extraction. Subsequently, gas chromatography-mass spectrometry (GC-MS) can be used to obtain the highest level of sensitivity and selectivity in the analysis of cholesterol. This chapter describes two methods of lipid extraction for liver tissue, Bligh and Dyer and methyl tertiary butyl ether (MTBE), followed by an analysis with GC-MS.


Assuntos
Colesterol , Éteres Metílicos , Ácidos e Sais Biliares , Colesterol/análise , Cromatografia Gasosa-Espectrometria de Massas/métodos , Hormônios , Fígado/química , Vitamina D
4.
Food Chem ; 402: 133922, 2023 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-36162171

RESUMO

In vitro experiments showed that i) phytates, tannins and saponins from pulses can alter vitamin D and K bioavailability and ii) meat decreased vitamin D bioaccessibility by impairing its stability during digestion. We aimed to confirm these results in vivo by force-feeding mice with emulsions containing either potatoes or semolina or chickpeas or meat. Vitamin D and K plasma responses decreased after a gavage with chickpeas or meat compared with potatoes (-62 % and -67 %, respectively for vitamin D, -40 % and -64 %, respectively for vitamin K; p < 0.05). Vitamin D and K intestinal contents were also reduced in mice force-fed with chickpeas or meat compared with potatoes (from -64 to -83 % and from -76 to -84 %, respectively for vitamin D and from -7 to -59 % and from -7 to -90 %, respectively for vitamin K; p < 0.05). The results confirm that chickpea and meat compounds can decrease vitamin D and K bioavailability.


Assuntos
Saponinas , Vitamina D , Camundongos , Animais , Emulsões , Vitaminas , Carne/análise , Amido , Vitamina K , Taninos
5.
J Steroid Biochem Mol Biol ; 225: 106198, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36181990

RESUMO

To evaluate the effects of long-term vitamin D supplementation on metabolic profiles in middle-aged to elderly patients with type 2 diabetes (T2D), a randomized controlled trial was conducted among patients with T2D aged 50-70 years. A total of 270 patients underwent randomization with 135 being allocated to the vitamin D group and 135 to the control group, and participants in the vitamin D group received oral vitamin D3 (800 IU/day) for 30 months. Serum 25(OH)D and metabolic variables were measured at baseline, and after 6, 12, 18, and 30 months of intervention. After 30 months, the vitamin D group showed a greater increase in serum 25(OH)D than the control group (12.39 ± 6.99 vs 5.35 ± 5.29 ng/ml, P < 0.001). Meanwhile, changes in the levels of fasting insulin, HOMA-IR, non-high-density-lipoprotein cholesterol (non-HDL-C), high-sensitivity C-reactive protein (hs-CRP), and uric acid differed significantly between the two groups (all P < 0.05). Stratified analysis indicated that change in uric acid differed significantly between the two groups in subgroup with baseline 25(OH)D ≥ 20 ng/ml (P = 0.042) or subgroup with female patients (P = 0.034). And the change in fasting blood glucose (FBG) differed significantly between the vitamin D group (-0.30 ± 2.52 mmol/L) and the control group (0.49 ± 1.78 mmol/L, P = 0.049) among patients achieving 25(OH)D concentrations of 30 ng/ml at the end of this trial. A significant difference in the change of triglyceride was observed between the two groups among patients with obesity at baseline [0.05(-0.59, 0.23) vs 0.41(-0.01, 0.80) mmol/L, P = 0.023]. These findings suggested that long-term vitamin D supplementation significantly reduced fasting insulin, HOMA-IR, and serum concentrations of non-HDL-C, hs-CRP, and uric acid among middle-aged to elderly patients with T2D. And vitamin D status, gender, and baseline obesity may modify the effects of vitamin D supplementation.


Assuntos
Diabetes Mellitus Tipo 2 , Resistência à Insulina , Pessoa de Meia-Idade , Idoso , Humanos , Feminino , Vitamina D/uso terapêutico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/metabolismo , Proteína C-Reativa/metabolismo , Ácido Úrico , Glicemia/metabolismo , Suplementos Nutricionais , Vitaminas/uso terapêutico , Insulina/metabolismo , Obesidade , Metaboloma , Método Duplo-Cego
6.
Bone ; 166: 116570, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36182103

RESUMO

It is mandatory to manage musculoskeletal disorders in the elderly to prevent their becoming bed-ridden or requiring long-term care. However, the prevalence of musculoskeletal disorders such as osteoporosis and sarcopenia in otherwise healthy people over 85 years old is not completely known. Here we enrolled 1026 healthy subjects between 85 and 89 years old and evaluated them for the presence of osteoporosis, sarcopenia and fragility fracture(s), and how those conditions were related. We also evaluated biomarkers such as serum levels of insulin-like growth factor 1 (IGF1) and vitamin D status. The prevalence of osteoporosis, sarcopenia or fragility fracture(s) in these subjects was 22.4, 10.2 or 15.0 %, respectively. Serum IGF1 and 25(OH)D were significantly and negatively correlated with osteoporosis or sarcopenia. Osteoporosis and either sarcopenia or fragility fracture(s) were significantly related and shown to be risk factors for each other, even after adjustment for gender and BMI, while sarcopenia and fragility fracture(s) were not associated. Our data may provide a health platform for the very elderly and suggest strategies to prevent musculoskeletal disorders in this population.


Assuntos
Fraturas Ósseas , Osteoporose , Sarcopenia , Humanos , Idoso , Idoso de 80 Anos ou mais , Sarcopenia/complicações , Sarcopenia/epidemiologia , Fator de Crescimento Insulin-Like I , Osteoporose/complicações , Osteoporose/epidemiologia , Fraturas Ósseas/epidemiologia , Vitamina D , Densidade Óssea
7.
Bone ; 166: 116581, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36216304

RESUMO

People with diabetes and chronic kidney disease (CKD) are predisposed to bone mineral disorders and increased fracture risk. There is limited data on the effect of calcitriol on bone turnover markers (BTMs) in people with type 2 diabetes (T2DM) and stage 3 CKD. In a pre-specified secondary endpoint analysis of a 48-week randomized placebo controlled double-blind trial, we studied the effects of oral calcitriol 0.25 µg once daily on circulating BTMs that included osteocalcin (OCN), C-terminal telopeptide of type I collagen (CTXI), procollagen type I N-propeptide (PINP) and fibroblast growth factor-23 (FGF-23). Inclusion criteria were people with T2DM with stable stage 3 CKD stage and intact parathyroid hormone (iPTH) >30 pg/ml. In total, 127 people [calcitriol (n = 64), placebo (n = 63)] were eligible for analyses. Baseline median (interquartile range) age of the cohort was 67 (60.5-70) years, iPTH (median range) 73.9 (55, 105) pg/ml and eGFR 40 (33, 48.5) ml/min. Calcitriol treatments resulted in a significant fall in iPTH, CTX, PINP and OCN levels and rise FGF-23, with mean (95 % confidence interval) between group differences in iPTH [-27.8 pg/ml; 95 % CI (-42.3 to -13.2); p < 0.001], FGF-23 [30.6 pg/ml; 95 % CI (14.8 to 46.3); p < 0.001], CTX [0.12 µg/l; 95 % CI (-0.19 to -0.06); (p < 0.001) and OCN [-4.03 ng/ml; 95 % CI (-7.8 to -0.27); p = 0.036]. Similarly we observed with calcitriol, as between treatment percentage change, a reduction of -38 % for iPTH, -34 % for CTX, and -28 % for OCN levels respectively (p < 0.05 for all). In people with T2DM and stage 3 CKD, calcitriol reduces the levels of CTX, OCN, PINP and iPTH. Further studies are needed to assess the clinical significance of our findings and the related long term impact on bone health.


Assuntos
Diabetes Mellitus Tipo 2 , Insuficiência Renal Crônica , Idoso , Humanos , Biomarcadores , Remodelação Óssea , Calcitriol/uso terapêutico , Calcitriol/farmacologia , Colágeno Tipo I , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/complicações , Osteocalcina/farmacologia , Hormônio Paratireóideo/farmacologia , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/tratamento farmacológico , Vitamina D/farmacologia , Pessoa de Meia-Idade
8.
Clin Chem Lab Med ; 61(1): 78-85, 2023 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-36279170

RESUMO

OBJECTIVES: Vitamin D-binding protein (VDBP), a serum transport protein for 25-hydroxyvitamin D [25(OH)D], has three common proteoforms which have co-localized amino acid variations and glycosylation. A monoclonal immunoassay was found to differentially detect VDBP proteoforms and methods using liquid chromatography-tandem mass spectrometry (LC-MS/MS) might be able to overcome this limitation. Previously developed multiple reaction monitoring LC-MS/MS methods for total VDBP quantification represent an opportunity to probe the potential effects of proteoforms on proteolysis, instrument response and quantification accuracy. METHODS: VDBP was purified from homozygous human donors and quantified using proteolysis or acid hydrolysis and LC-MS/MS. An interlaboratory comparison was performed using pooled human plasma [Standard Reference Material® 1950 (SRM 1950) Metabolites in Frozen Human Plasma] and analyses with different LC-MS/MS methods in two laboratories. RESULTS: Several shared peptides from purified proteoforms were found to give reproducible concentrations [≤2.7% coefficient of variation (CV)] and linear instrument responses (R2≥0.9971) when added to human serum. Total VDBP concentrations from proteolysis or amino acid analysis (AAA) of purified proteoforms had ≤1.92% CV. SRM 1950, containing multiple proteoforms, quantified in two laboratories resulted in total VDBP concentrations with 7.05% CV. CONCLUSIONS: VDBP proteoforms were not found to cause bias during quantification by LC-MS/MS, thus demonstrating that a family of proteins can be accurately quantified using shared peptides. A reference value was assigned for total VDBP in SRM 1950, which may be used to standardize methods and improve the accuracy of VDBP quantification in research and clinical samples.


Assuntos
Espectrometria de Massas em Tandem , Proteína de Ligação a Vitamina D , Humanos , Cromatografia Líquida/métodos , Espectrometria de Massas em Tandem/métodos , Proteólise , Vitamina D , Proteínas Sanguíneas/metabolismo , Aminoácidos/metabolismo
9.
Clin Chem Lab Med ; 61(1): 86-92, 2023 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-36103653

RESUMO

OBJECTIVES: Measurement of the serum levels of vitamin B12 (VB12) is key for evaluating VB12 deficiency-dependent anemia. Immunoassay, the major method for determining VB12, tends to give false-normal results because of the presence of anti-intrinsic factor (IF-Ab) or other factors such as heterophilic antibodies et al. This study aimed to develop a liquid chromatography tandem mass spectrometry (LC-MS/MS) method that is helpful for distinguish false normal VB12 results measured by the immunoassay. METHODS: Different forms of VB12 were derivatized into CN-B12, which was collected through solid-phase extraction and analyzed via LC-MS/MS. 236 serum samples were measured both by LC-MS/MS and immunoassay, results were compared, and the IF-Ab effect was evaluated. RESULTS: The LC-MS/MS assay afforded a linear slope from 20 to 4,000 pmol/L for CN-B12. OH-VB12, methyl-VB12, and CoA-VB12 showed recovery within 89.3-109.5%. The intra-assay CV of VB12 was 2.6-4.1%, whereas the total CV was 9.3-9.8%. Passing-Bablok regression between LC-MS/MS and immunoassay results showed that the slope was 1.085 and the intercept was -15.691. The Bland-Altman plot showed that the mean difference and difference% were -34.6 pmol/L and 0.3%, respectively. Inter-rater agreement analysis showed that the linear weighted kappa value was 0.885, implying good agreement between the two methods. However, two samples were falsely elevated and one sample was falsely normal in the immunoassay compared with LC-MS/MS. The LC-MS/MS method helped in the distinction of false-normal VB12 results shown by the immunoassay. CONCLUSIONS: The VB12 LC-MS/MS method can be used as an arbiter of clinically discordant immunoassay results.


Assuntos
Espectrometria de Massas em Tandem , Vitamina D , Humanos , Cromatografia Líquida/métodos , Espectrometria de Massas em Tandem/métodos , Imunoensaio/métodos , Vitamina B 12
10.
J Mol Graph Model ; 118: 108346, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36208593

RESUMO

The Vitamin D Receptor (VDR) ligand-binding domain undergoes conformation change upon the binding of VDR agonists/antagonists. Helix 12 ((H)12) is one of the important helices at VDR ligand binding and its conformational changes are controlled by the binding of agonists and antagonists molecules. Various molecular modeling studies are available to explain the agonistic and antagonistic activity of vitamin D analogs. In this work, for the first time, we attempted to generate a machine learning model with fingerprints, 2D, 3D and MD descriptors that are specific to Vitamin D analogs and VDR. Initially, 2D and 3D descriptors and fingerprints of 1003 vitamin D analogs were calculated using CDK and RDKit. The machine learning model was generated using descriptors and fingerprints. Further, 80 Vitamin D analogs (40 VDR agonists + 40 VDR antagonists) were docked in the VDR active site. 50ns MD simulation was performed for each protein-ligand complex. Different MD descriptors such as Solvent Accessible Surface Area (SASA), radius of gyration, PC1 and PC2 were calculated and considered along with CDK and RDKit descriptors as features for machine learning calculations. A few other descriptors that are related to VDR conformational changes such as conformation of the (H)12, the angle at kink were considered for machine learning model generation. It was observed that the descriptors calculated from VDR conformational changes i) were able to distinguish between agonists and antagonists ii) provide key and comprehensive information about the unique binding characteristics of agonists and antagonists iii) provide a strong basis for the machine learning model generation. Overall, this study attempts the utilization of descriptors that are specific to a protein conformation will be helpful for the generation of an efficient machine learning model.


Assuntos
Receptores de Calcitriol , Vitamina D , Receptores de Calcitriol/química , Ligantes , Vitamina D/farmacologia , Vitamina D/metabolismo , Conformação Proteica , Aprendizado de Máquina
11.
J Affect Disord ; 320: 390-396, 2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-36183827

RESUMO

BACKGROUND: Evidence suggests that low individual vitamin D levels enhance adverse effects associated with air pollution on mental health conditions. The aim of this study was to identify associations between ambient air pollution exposure, mental health, and serum vitamin D status in the general population of South Korea. METHODS: We included national representative data for 29,373 adults in the final analysis. We measured serum 25-hydroxyvitamin D concentrations to assess vitamin D status for each participant. We assessed mental health factors (i.e., perceived stress, depressive symptoms, and suicidal ideation), and analyzed associations between these factors and individuals' annual average exposures to air pollutants, including particulate matter with an aerodynamic diameter ≤ 10 µm (PM10), nitrogen dioxide (NO2), sulfur dioxide, and carbon monoxide (CO). RESULTS: Using an adjusted model, we found PM10 affected mental health outcomes, such as perceived stress (odds ratio [OR] = 1.04; 95 % confidence interval [CI] = 1.00-1.09), depression symptoms (OR = 1.12; 95 % CI = 1.06-1.18), and suicidal ideation (OR = 1.11; 95 % CI = 1.05-1.17). Effects of the pollutants NO2 and CO were significant only in the group with perceived stress and depressive symptoms. PM10 and NO2 exposures were significantly associated with increased odds of adverse mental health in participants with vitamin D deficiency. LIMITATIONS: Since the cross-sectional design of KNHANES data, it is not possible to evaluate the causal relationship between air pollution exposure, vitamin D status and mental health. CONCLUSIONS: This study results suggest that associations between ambient air pollution and mental health outcomes were stronger in participants with vitamin D deficiency.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Deficiência de Vitamina D , Humanos , Adulto , Dióxido de Nitrogênio/análise , Inquéritos Nutricionais , Estudos Transversais , Poluentes Atmosféricos/efeitos adversos , Poluentes Atmosféricos/análise , Material Particulado/efeitos adversos , Material Particulado/análise , Vitamina D , Vitaminas , Deficiência de Vitamina D/epidemiologia , Avaliação de Resultados em Cuidados de Saúde , Exposição Ambiental/efeitos adversos
12.
Food Chem ; 398: 133917, 2023 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-35987007

RESUMO

The effect of dried and UV-C-irradiated mushroom powder on lipid oxidation and vitamin D content in fish meat was investigated. To this end, Flammulina velutipes, Grifola frondosa, Hypsizygus marmoreus, Lentinula edodes, Pleurotus eryngii, Pleurotus ostreatus were dried by hot air and irradiated by UV-C and evaluated the effect of these treatments on the components. In general, the ergothioneine content did not change substantially, the total phenolic compound content decreased by hot-air drying, and the ergocalciferol content increased by UV-C irradiation. To the evaluate effect of mushroom powder on lipid oxidation and vitamin D content in fish meat, 5% of the hot air dried and UV-C-irradiated mushroom powder was added to fish meat and oxidized. Consequently, all six mushrooms prevented lipid oxidation, and ergocalciferol content in each mushroom powder remained between 58.2% and 69.7%. Overall, P. eryngii, L. edodes, and P. ostreatus strongly prevented the generation of lipid peroxide and aldehyde.


Assuntos
Agaricales , Vitamina D , Agaricales/efeitos da radiação , Animais , Ergocalciferóis , Peixes , Lipídeos , Carne , Pós , Vitaminas
13.
Ann Biol Clin (Paris) ; 80(5): 460-463, 2022 09 01.
Artigo em Inglês, Francês | MEDLINE | ID: mdl-36453734

RESUMO

Background: 25-Hydroxyvitamin D 24-hydroxylase (CYP24A1) deficiency is a rare cause of autosomal recessive infantile hypercalcemia due to vitamine D hypersensitivity. Case presentation: We report the case of a 2-year-old boy who presented with severe hypercalcemia-hypercalciuria and a bilateral nephrocalcinosis. Laboratory investigations detected a collapsed parathormone and a highly elevated 1α,25-dihydroxycholecalciferol along with an increased phosphate excretion (hypophosphatemia and hyperphosphaturia). An adapted management with two courses of palmidronic acid and an eviction of vitamin D and calcium allowed to stabilize him. A homozygous p.Leu409Ser pathogenic variant on CYP24A1 gene resulting in a collapsed 25-Hydroxyvitamin D24-hydroxylase activity was found. A normal development is possible with a meticulous clinical, biological and nutritional management and monitoring. Conclusions: Vitamin D hypersensitivity is challenging during childhood, especially due to the need to avoid vitamin D while requiring a close nutritional monitoring to maintain a normal growth. Biomarkers such as vitamin D metabolite ratio and 24,25(OH)2D3 along with ionized calcium and nutritional management can contribute to properly follow patients with vitamin D hypersensitivity.


Contexte: Le déficit en 25-hydroxyvitamine D 24-hydroxylase (CYP24A1) est une cause rare d'hypercalcémie infantile autosomique récessive due à une hypersensibilité à la vitamine D. Présentation du cas: Nous rapportons le cas d'un garçon de 2 ans qui a présenté une hypercalcémie-hypercalciurie sévère et une néphrocalcinose bilatérale. Les examens de laboratoire ont détecté une parathormone effondrée et un 1α,25-dihydroxycholécalciférol très élevé ainsi qu'une excrétion accrue de phosphate (hypophosphatémie et hyperphosphaturie). Une prise en charge adaptée avec deux cures d'acide palmidronique et une éviction de la vitamine D et du calcium a permis de le stabiliser. Un variant pathogène homozygote p.Leu409Ser sur le gène CYP24A1 entraînant un effondrement de l'activité de la 25-hydroxyvitamine D24-hydroxylase a été retrouvé. Un développement normal est possible avec une prise en charge et un suivi clinique, biologique et nutritionnel méticuleux. Conclusions: L'hypersensibilité à la vitamine D est un défi pendant l'enfance, notamment en raison de la nécessité d'éviter la vitamine D tout en exigeant un suivi nutritionnel étroit pour maintenir une croissance normale. Les biomarqueurs tels que le rapport des métabolites de la vitamine D et la 24,25(OH)2D3, ainsi que le calcium ionisé et la gestion nutritionnelle peuvent contribuer à un suivi adéquat des patients souffrant d'hypersensibilité à la vitamine D.


Assuntos
Hipercalcemia , Masculino , Lactente , Humanos , Pré-Escolar , Hipercalcemia/complicações , Hipercalcemia/diagnóstico , Vitamina D3 24-Hidroxilase/genética , Cálcio , Vitamina D , Hipercalciúria
14.
Rev. osteoporos. metab. miner. (Internet) ; 14(4): 115-124, diciembre 2022. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-JHG-1234

RESUMO

Antecedentes: La elevada prevalencia de hipovitaminosis D en España es considerada una verdadera epidemia con importantes implicaciones para la salud por las múltiples funciones que ejerce la vitamina D tanto a nivel esquelético como extraesquelético. Para que las personas con insuficiencia o deficiencia en vitamina D alcancen los niveles séricos más adecuados, deben recibir suplementos de vitamina D. Este estudio se realizó con la finalidad de evaluar si en la práctica clínica habitual, el manejo de la hipovitaminosis D era llevada a cabo según las recomendaciones internacionales establecidas por las sociedades científicas.Métodos: Se realizaron dos rondas de circulación de un cuestionario Delphi entre un panel formado por médicos prescriptores habituales de vitamina D.Resultados: En general, los médicos del panel reconocieron la alta prevalencia de la hipovitaminosis D en España, la necesidad del cribado en los distintos grupos de riesgo y los beneficios de la suplementación en los pacientes con insuficiencia o déficit de vitamina D. Sin embargo, no se alcanzó el consenso en algunas de las aseveraciones relacionadas con los métodos de cuantificación de la vitamina D o con las recomendaciones para el manejo de la hipovitaminosis D.Conclusiones: La ausencia de acuerdo para algunos de los ítems reveló la necesidad de realizar acciones formativas destinadas a proporcionar un conocimiento adecuado y actualizado sobre las evidencias científicas y las recomendaciones para la práctica clínica de la suplementación de vitamina D. (AU)


Assuntos
Humanos , Suplementos Nutricionais , Vitamina D , Deficiência de Vitamina D , Fósforo , Metabolismo , Cálcio
16.
BMC Public Health ; 22(1): 2217, 2022 11 29.
Artigo em Inglês | MEDLINE | ID: mdl-36447164

RESUMO

BACKGROUND: Migration is usually accompanied by changes in the social, cultural, and religious environment, socioeconomic status, and housing conditions, all of which affect nutritional health. In a cross-sectional study, we assessed the dietary intake as well as nutritional and health situation in a population of Syrian refugees who have resided in Germany for at least six months up to four years since 2015. The primary aim of this pilot study was to evaluate the nutritional and health status in comparison to reference values. METHODS: Between December 2018 and March 2020, 114 adult Syrian refugees were included in the study. The subjects filled out questionnaires on sociodemographic variables, exercise, and nutrition behavior (three-day nutrition record). After a fasting blood draw, the subjects were examined for anthropometric parameters (height, weight, body mass index, waist circumference, waist-hip ratio, and body composition via a bioelectrical impedance analyzer). Various blood markers including iron status, hematological parameters, Vitamin D status, lipid metabolism, glucose metabolism, and total homocysteine (tHcy) were measured. RESULTS: About half of the participants (71 male, 43 female) had lived in Germany for less than three years. Over 60% of men and 30% of women were overweight (BMI 25-30 kg/m2) or obese (BMI > 30 kg/m2), while 79% of men and 74% of women observed an elevated body fat mass. The evaluation of the three-day nutrition records revealed an unfavorable supply situation for numerous critical nutrients. More than half of the women (53.5%) had depleted iron stores (serum ferritin < 15 µg/l). The 25-OH-Vitamin D blood levels showed a high prevalence of Vitamin D insufficiency (25-49.9 nmol/l: 38% of men and 21% of women) and deficiency (< 25 nmol/l: 44% of men and 70% of women). 83% of men and 67% of women showed tHcy levels in plasma > 10 nmol/l. Fasting insulin levels and the HOMA-IR index indicate a risk for insulin resistance. Hyperlipidemia was prevalent, especially in males with 24% showing hypertriglyceridemia (> 150 mg/dl) and LDL-hypercholesterolemia (> 130 mg/dl). CONCLUSIONS: The nutritional and health status of the cohort of Syrian refugees in Germany examined in this study is unsatisfactory, and many of the investigated refugees are at risk for developing cardiovascular disease and type 2 diabetes mellitus. Further studies are required to investigate the nutritional and health situation of refugees. This is obligatory to find ways to avoid malnutrition with all its associated health, sociodemographic, and economic consequences.


Assuntos
Diabetes Mellitus Tipo 2 , Refugiados , Adulto , Feminino , Masculino , Humanos , Estudos Transversais , Projetos Piloto , Síria/epidemiologia , Nível de Saúde , Alemanha/epidemiologia , Vitaminas , Vitamina D
17.
BMC Womens Health ; 22(1): 482, 2022 11 29.
Artigo em Inglês | MEDLINE | ID: mdl-36447189

RESUMO

BACKGROUND: Non-pharmacological interventions are the first line of Gestational diabetes mellitus (GDM) management. Community-based interventions are cheaper, more accessible, with higher patient satisfaction. OBJECTIVES: To systematically review community-based non-pharmacological interventions and evaluate their effectiveness for GDM. SEARCH STRATEGY: Twelve bibliographic databases and reference list of related studies from inception until January 2022. SELECTION CRITERIA: All primary studies of community-based non-pharmacological interventions for GDM reported in English which investigated any behavioural or clinical outcome(s). DATA COLLECTION AND ANALYSIS: Data were extracted using modified Cochrane's data extraction template. Studies were evaluated using Cochrane Collaboration's risk of bias tool. Narrative synthesis was used to summarise findings. This study is registered with PROSPERO (CRD42021257634). MAIN RESULTS: Twenty-seven studies involving 6,242 pregnant women with GDM investigated self-management programmes, medical nutrition/diet therapy, exercise/physical activity, combined diet and exercise, calcium plus vitamin D supplementation, and continuous glucose monitoring. Self-management programmes were more effective than routine care in improving self-efficacy, two-hour postprandial blood glucose, and lifestyle behaviours but were as effective as routine care in improving infant birth weight. Self-management programmes were superior to or as effective as usual care in improving fasting blood glucose, blood glucose control, glycated haemoglobin, macrosomia, and preterm delivery. Medical nutrition/diet therapy was more effective than usual care in improving postprandial blood glucose levels. Postprandial blood glucose levels were better improved by regular supervised exercise plus daily brisk walks or a daily walking intervention than routine obstetric care or no treatment. The effects of exercise/physical activity programmes were mostly inconsistent for other outcomes. Diet and exercise were superior to diet alone in reducing maternal weight gain although there were similar outcomes for other pregnancy and foetal outcomes. Limited or conflicting evidence was found for other outcomes and interventions including calcium and vitamin D supplementation and continuous glucose monitoring intervention. CONCLUSIONS: Community-based non-pharmacological interventions are more effective than placebo; and are more or as effective as usual care. Self-management programmes and medical nutrition/diet therapy had the most promising GDM outcomes. FUNDING: There was no funding for this study. The study design, data collection, data analysis and interpretation, and writing of this manuscript were not influenced externally by any funder.


Assuntos
Diabetes Gestacional , Gravidez , Lactente , Recém-Nascido , Humanos , Feminino , Diabetes Gestacional/terapia , Gestantes , Glicemia , Cálcio , Automonitorização da Glicemia , Vitamina D
18.
BMC Psychiatry ; 22(1): 681, 2022 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-36333678

RESUMO

BACKGROUND: Schizophrenia is a devastating condition characterized by frequent recurrences, cognitive decline, and emotional and functional disabilities. This condition includes positive and negative symptoms and cognitive impairments resistant to drug treatment. According to studies, many biomarkers can affect this disorder. However, there is little information about vitamin D and homocysteine levels in patients with disease complications. We aimed to investigate this relationship in schizophrenia. METHOD: In this case-control study, 33 patients with schizophrenia and 33 healthy individuals were enrolled from Golestan, the north of Iran, in 2021. Blood samples were taken from all participants to assess vitamin D and homocysteine serum levels. In addition, schizophrenic patients completed the Positive And Negative Syndrome Scale (PANSS) and Simpson-Angus Extrapyramidal Side Effects Scale (SAS). Data analysis was performed at a significance level of 0.05 using SPSS 16 software. RESULTS: Of the 66 participants, 66.7% had vitamin D deficiency, and 71.2% had normal homocysteine levels. However, the serum level of vitamin D was lower in schizophrenic patients than in controls (p = 0.035), and serum homocysteine levels were higher in the schizophrenic group than in controls (p < 0.001). Vitamin D levels in patients with schizophrenia were significantly correlated with the overall assessment of extrapyramidal symptoms (r = 0.35, p = 0.04). However, no significant relationship existed between vitamin D and homocysteine levels and PANSS results (p > 0.05). CONCLUSION: Serum levels of vitamin D and homocysteine were significantly lower and higher in schizophrenic patients than in the control group. Improvement of extrapyramidal symptoms in schizophrenic patients had a direct and significant relationship with serum vitamin D.


Assuntos
Esquizofrenia , Humanos , Esquizofrenia/diagnóstico , Vitamina D , Homocisteína , Estudos de Casos e Controles , Irã (Geográfico) , Vitaminas
19.
BMC Womens Health ; 22(1): 431, 2022 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-36333692

RESUMO

BACKGROUND: Urinary incontinence, especially stress urinary incontinence (SUI), is one of the problems experienced by premenopausal women. Given the role of vitamin D in enhancing muscle strength and function, this study explored the effect of vitamin D3 supplementation on SUI in premenopausal women. METHODS: A randomized controlled trial was performed with 60 premenopausal women referring to Kerman gynecological clinic in 2020 and 2021. Eligible women received a 5000-unit vitamin D supplement or placebo weekly for 3 months. The International Consultation on Incontinence Questionnaire-Urinary Incontinence Short Form (ICIQ-SF) was utilized to assess SUI severity before and after the intervention. The t-test, Chi-square test, and repeated measures ANOVA were carried out in SPSS software (version 22) to analyze the data. P-values smaller than 0.05 were considered significant. RESULTS: Before the intervention, there was no significant difference between the intervention and control groups in SUI severity (P = 0.652) and the impact of SUI severity on premenopausal women's lives (P = 0.804). In contrast, after 8-12 weeks of vitamin D supplementation, these scores decreased significantly in the intervention group relative to the control group (P <  0.001). In addition, after vitamin D supplementation, the number of SUI and urinary leakage symptoms decreased in the intervention group (P <  0.001). CONCLUSION: Vitamin D supplementation improves SUI in premenopausal women. TRIAL REGISTRATION: This trial was registered with the Iranian Registry of Clinical Trials; https://fa.irct.ir/trial/53474 (IRCT20190724044318N2) on 11/02/2021.


Assuntos
Incontinência Urinária por Estresse , Incontinência Urinária , Deficiência de Vitamina D , Feminino , Humanos , Incontinência Urinária por Estresse/tratamento farmacológico , Vitamina D/uso terapêutico , Irã (Geográfico) , Suplementos Nutricionais , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológico , Resultado do Tratamento , Qualidade de Vida
20.
Nutrients ; 14(21)2022 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-36364923

RESUMO

BACKGROUND: The issue of vitamin metabolism in children with cystic fibrosis screen positive, inconclusive diagnosis (CFSPID) is not well known. The aim of this study was to determine the status of vitamins A, D, E, and C in the blood of a group of children with CFSPID. MATERIAL AND METHODS: A total of 89 children were enrolled in the study (Me: 3.6 years, 52.8% boys), as follows: 28 with CFSPID, 31 with CF (cystic fibrosis), and 30 HC (healthy children). Their blood concentrations of vitamins A, D, E, and C, and their dietary intake of these vitamins were analysed in the study groups on the basis of a three-day food diary. RESULTS: The patients with CFSPID had significantly higher serum vitamin D (p = 0.01) and E (p = 0.04) concentrations, compared to the children with CF. None of the children with CFSPID revealed vitamin A or E deficiencies. Patients with CF had been consuming significantly higher vitamin D and E amounts (p = 0.01). The vitamin concentrations did not depend either on the pancreatic/liver function or on anthropometric parameters. In total, 32.14% of patients with CF did not cover the baseline recommended calorie intake, and 53.6% and 36% did not take the recommended vitamin E and vitamin A intake, respectively. CONCLUSION: Children with CF and CFSPID did not fully cover the dietary recommendations for vitamin supply, but vitamin deficiency was found only in CF.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística , Fibrose Cística , Feminino , Humanos , Masculino , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Mutação , Triagem Neonatal , Vitamina A , Vitamina D , Vitaminas , Pré-Escolar
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